Canonical Allele Identifier: CA397723156

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124935T>G (hg19) ; chr17:g.7221616T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221616T>G , CM000679.2:g.7221616T>G	GRCh38
NC_000017.10:g.7124935T>G , CM000679.1:g.7124935T>G	GRCh37
NC_000017.9:g.7065659T>G	NCBI36
NG_007975.1:g.6783T>G
NG_008391.2:g.3435A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.556T>G MANE Select	ENSP00000349297.5:p.Phe186Val
ENST00000322910.9:c.*511T>G	ENSP00000325395.5:n.*511T>G
ENST00000350303.9:c.490T>G	ENSP00000344152.5:p.Phe164Val
ENST00000356839.9:c.556T>G	ENSP00000349297.5:p.Phe186Val
ENST00000543245.6:c.625T>G	ENSP00000438689.2:p.Phe209Val
ENST00000577191.5:n.633T>G
ENST00000577433.5:n.764T>G
ENST00000577857.5:n.372T>G
ENST00000579286.5:n.737T>G
ENST00000579886.2:c.394T>G	ENSP00000463246.1:p.Phe132Val
ENST00000580365.1:n.287T>G
ENST00000581378.5:c.274T>G
ENST00000581562.5:n.525-336T>G
ENST00000582166.1:n.537T>G
ENST00000583312.5:c.556T>G	ENSP00000467920.1:p.Phe186Val
ENST00000583760.1:n.338T>G
NM_000018.3:c.556T>G	NP_000009.1:p.Phe186Val
NM_001033859.2:c.490T>G	NP_001029031.1:p.Phe164Val
NM_001270447.1:c.625T>G	NP_001257376.1:p.Phe209Val
NM_001270448.1:c.328T>G	NP_001257377.1:p.Phe110Val
XM_006721516.2:c.556T>G	XP_006721579.2:p.Phe186Val
XM_011523829.1:c.556T>G	XP_011522131.1:p.Phe186Val
XM_011523830.1:c.556T>G	XP_011522132.1:p.Phe186Val
XR_934021.1:n.663T>G
XR_934022.1:n.663T>G
XR_934023.1:n.663T>G
XM_006721516.3:c.556T>G	XP_006721579.2:p.Phe186Val
XM_011523829.2:c.556T>G	XP_011522131.1:p.Phe186Val
XM_011523830.2:c.556T>G	XP_011522132.1:p.Phe186Val
XM_024450741.1:c.556T>G	XP_024306509.1:p.Phe186Val
XR_934021.2:n.615T>G
XR_934022.2:n.615T>G
XR_934023.2:n.615T>G
NM_000018.4:c.556T>G MANE Select	NP_000009.1:p.Phe186Val
NM_001033859.3:c.490T>G	NP_001029031.1:p.Phe164Val
NM_001270447.2:c.625T>G	NP_001257376.1:p.Phe209Val
NM_001270448.2:c.328T>G	NP_001257377.1:p.Phe110Val